Many of our community know the difficulties that come with a diagnosis process, the roller coaster of emotions and the hours of feverish research as we try to make sense of the terms, typical prognosis and management strategies. What if, knowing that your child has health or developmental issues, despite many medical appointments the specialists cannot give you that name of a disorder? What if your child has a genetic disorder so rare and unique that they may be one of only two children known to have it in the whole world? How would that feel? Where would you go for support? SGPC spoke to Lousie, the South Glos rep for SWAN, Syndromes Without a Name who told us about her experience and how finding SWAN was a huge turning point for her.
Language sometimes fails us. I had considered myself pretty proficient with the English language and its Bristolian colloquialisms, a confident user of terms such as “slider”, “smoovin’ the cat” and “gert lush”. I hadn’t had too much trouble making myself understood; that was until I had found myself on the unexpected life path of being a Parent Carer to a child with disabilities.